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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PCYT2
phosphate cytidylyltransferase 2, ethanolamine
Chromosome 17 Β· 17q25.3
NCBI Gene: 5833Ensembl: ENSG00000185813.11HGNC: HGNC:8756UniProt: B3KSC8
42PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ethanolamine-phosphate cytidylyltransferase activityprotein bindingphosphatidylethanolamine biosynthetic processcytoplasmspastic paraplegia 82, autosomal recessivecomplex hereditary spastic paraplegianeurodegenerative diseaseGlobal developmental delay
✦AI Summary

PCYT2 (phosphate cytidylyltransferase 2, ethanolamine) catalyzes the second step in phosphatidylethanolamine (PE) synthesis via the CDP-ethanolamine pathway 1. As a rate-limiting enzyme in PE biosynthesis, PCYT2 produces CDP-ethanolamine, which is coupled with diacylglycerols to form PE 2. PE is a dominant inner-leaflet phospholipid critical for membrane stability, cell division, apoptosis, and immune signaling 34. Mechanistically, PCYT2-synthesized PE regulates multiple cellular processes: it coordinates CXCR5 surface expression for T follicular helper cell differentiation 4, suppresses epithelial-mesenchymal transition in colorectal cancer by elevating YAP1 phosphorylation 5, and maintains mitochondrial function 6. PCYT2 activity declines in aging muscle and during liver regeneration, where downregulation protects against injury 78. Clinically, PCYT2 deficiency causes spastic paraplegia 82 with severe disease manifestations including failure to thrive and progressive muscle weakness 7. PCYT2 knockout mice recapitulate these phenotypes with accelerated aging and bioenergetic impairment. AAV-mediated PCYT2 delivery ameliorates muscle weakness in both disease models and age-related decline 7. Dysregulation of PCYT2-mediated lipid metabolism also associates with disease pathogenesis in hypertriglyceridemia-associated acute pancreatitis and hepatocellular carcinoma 96.

Sources cited
1
PCYT2 catalyzes the second step in CDP-ethanolamine pathway for PE synthesis
PMID: 31637422
2
PE is a dominant inner-leaflet phospholipid involved in membrane function, cell division, and apoptosis
PMID: 9083101
3
PCYT2 is the main regulatory enzyme in CDP-ethanolamine pathway; essential for murine development
PMID: 17325045
4
PCYT2 deficiency causes muscle weakness and accelerated aging; AAV-PCYT2 delivery ameliorates muscle weakness
PMID: 36941451
5
PCYT2 regulates PE synthesis that coordinates CXCR5 surface expression and TFH cell differentiation
PMID: 34234346
6
PCYT2 acts as tumor metastasis suppressor by regulating YAP1 phosphorylation in colorectal cancer
PMID: 39531326
7
PCYT2 overexpression promotes apoptosis and mitochondrial damage in hepatocellular carcinoma cells
PMID: 40434993
8
PCYT2 expression is upregulated in hypertriglyceridemia-associated acute pancreatitis with disease severity correlation
PMID: 39217651
9
PCYT2 downregulation by portal pressure protects hepatocytes during liver regeneration; PCYT2 inhibition facilitates liver regeneration in aging
PMID: 41346700
Disease Associationsβ“˜21
spastic paraplegia 82, autosomal recessiveOpen Targets
0.77Strong
complex hereditary spastic paraplegiaOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
Global developmental delayOpen Targets
0.46Moderate
Intellectual disabilityOpen Targets
0.46Moderate
Cerebellar atrophyOpen Targets
0.46Moderate
Cerebral atrophyOpen Targets
0.46Moderate
Developmental regressionOpen Targets
0.46Moderate
SeizureOpen Targets
0.46Moderate
Spastic paraparesisOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.45Moderate
Autosomal recessive spastic paraplegia type 54Open Targets
0.37Weak
hereditary spastic paraplegia 54Open Targets
0.37Weak
Spastic tetraparesisOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.31Weak
Alzheimer diseaseOpen Targets
0.30Weak
multiple sclerosisOpen Targets
0.30Weak
lysosomal storage diseaseOpen Targets
0.30Weak
neoplasmOpen Targets
0.10Suggestive
non-alcoholic steatohepatitisOpen Targets
0.09Suggestive
Spastic paraplegia 82, autosomal recessiveUniProt
Pathogenic Variants11
NM_002861.5(PCYT2):c.1075C>T (p.Arg359Ter)Pathogenic
Spastic paraplegia 82, autosomal recessive|Inborn genetic diseases
β˜…β˜…β˜†β˜†2021β†’ Residue 359
NM_002861.5(PCYT2):c.418C>T (p.Arg140Cys)Likely pathogenic
Spastic paraplegia 82, autosomal recessive
β˜…β˜†β˜†β˜†2025β†’ Residue 140
NM_002861.5(PCYT2):c.676C>T (p.His226Tyr)Likely pathogenic
Spastic paraplegia 82, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 226
NM_002861.5(PCYT2):c.682G>A (p.Gly228Arg)Likely pathogenic
Spastic paraplegia 82, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 228
NM_002861.5(PCYT2):c.903G>C (p.Lys301Asn)Likely pathogenic
Spastic paraplegia 82, autosomal recessive
β˜…β˜†β˜†β˜†2023β†’ Residue 301
NM_002861.5(PCYT2):c.781A>T (p.Lys261Ter)Likely pathogenic
Spastic paraplegia 82, autosomal recessive
β˜…β˜†β˜†β˜†2022β†’ Residue 261
NM_002861.5(PCYT2):c.524_527del (p.Asp175fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2021β†’ Residue 175
NM_002861.5(PCYT2):c.969+5G>ALikely pathogenic
Spastic paraplegia 82, autosomal recessive
β˜…β˜†β˜†β˜†
NM_002861.5(PCYT2):c.689T>A (p.Val230Glu)Pathogenic
Spastic paraplegia 82, autosomal recessive
β˜†β˜†β˜†β˜†2024β†’ Residue 230
NM_002861.5(PCYT2):c.1058+1G>APathogenic
Spastic paraplegia 82, autosomal recessive|Ovarian serous cystadenocarcinoma
β˜†β˜†β˜†β˜†2024
NM_002861.5(PCYT2):c.88T>G (p.Cys30Gly)Likely pathogenic
Spastic paraplegia 82, autosomal recessive
β˜†β˜†β˜†β˜†2022β†’ Residue 30
View on ClinVar β†—
Related Genes
PEMTProtein interaction97%ETNPPLProtein interaction91%PHOSPHO1Protein interaction91%CHKAProtein interaction89%CHPT1Protein interaction89%SIRT7Protein interaction87%
Tissue Expression6 tissues
Liver
100%
Heart
23%
Bone Marrow
14%
Brain
13%
Lung
11%
Ovary
11%
Gene Interaction Network
Click a node to explore
PCYT2PEMTETNPPLPHOSPHO1CHKACHPT1SIRT7
PROTEIN STRUCTURE
Preparing viewer…
PDB3ELB Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.52–0.90]
RankingsWhere PCYT2 stands among ~20K protein-coding genes
  • #9,924of 20,598
    Most Researched42
  • #2,792of 5,498
    Most Pathogenic Variants11
  • #8,177of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedPCYT2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.
PMID: 36941451
Nat Metab Β· 2023
1.00
2
Metabolic control of T
PMID: 34234346
Nature Β· 2021
0.90
3
Chaiqin chengqi decoction treatment mitigates hypertriglyceridemia-associated acute pancreatitis by modulating liver-mediated glycerophospholipid metabolism.
PMID: 39217651
Phytomedicine Β· 2024
0.80
4
PCYT2 inhibits epithelial-mesenchymal transition in colorectal cancer by elevating YAP1 phosphorylation.
PMID: 39531326
JCI Insight Β· 2024
0.70
5
Genomic organization and differential splicing of the mouse and human Pcyt2 genes.
PMID: 14697519
Gene Β· 2004
0.60